Annotation Detail
Information
- Associated Genes
- ACTA2 ACTA2-AS1
- Associated Variants
-
ACTA2 c.*158G>A
(
ENST00000371927.7,
ENST00000713597.1 )
ACTA2 c.*158G>A ( ENST00000713597.1, ENST00000371927.7 ) - Associated Disease
- Familial thoracic aortic aneurysm and aortic dissection
- Source Database
- ClinVar
- Description
- NR_125373.1(ACTA2-AS1):n.690C>T AND Familial thoracic aortic aneurysm and aortic dissection
- ClinVar Allele ID
- 353158
- ClinVar RefSeq Alternation Syntax
- NR_125373.1:n.690C>T
- Clinical Significance Description
- Likely benign
- Clinical Significance Last Update
- 2016-06-14
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000294662
- ClinVar Disease
- Familial thoracic aortic aneurysm and aortic dissection
- Observed Origin Sample
- germline
Drugs